Clinical Genetics Resources

Genotype to Phenotype1

Allele Frequency
Computational & Predictive Data

  1. 11 Questions to Always Ask a Variant↩︎

  2. Six lessons for variant interpretation↩︎

  3. Recommendations for clinical interpretation of variants found in non-coding regions of the genome↩︎

  4. An expanded phenotype centric benchmark of variant prioritization tools↩︎

  5. A comparison on predicting functional impact of genomic variants↩︎

  6. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria↩︎

 

Questions? Contributions?

bmuchmor@med.umich.edu